Defect seen in Hailey Hailey disease?
Correct Answer: ATP2C1
Description: Hailey-hailey disease / Benign familial pemphigus Occurs due to defect in gene: ATP2C1 gene which codes for: SERCA (Sarco Endoplasmic reticulase Ca2+ ATPase). Therefore, in this disease Ca2+ ATPase is defective. Ca2+ required for attachment of two desmosomes. ATP7A mutation causes Menke's disease. ATP7B mutation - Wilson's disease ATP2A2 mutation - Darier's disease.
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